ArticleTraffic (Copenhagen, Denmark)2012
OCRL1 modulates cilia length in renal epithelial cells.
Article in Traffic (Copenhagen, Denmark), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
44 citing papers in PubMed, 70 citations in OpenAlex.
- The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.FEBS letters · 2026Review
- Phosphatidylinositol 4,5-bisphosphate impacts extracellular vesicle shedding from C. elegans ciliated sensory neurons.Journal of cell science · 2025Article
- Phosphatidylinositol 4,5-bisphosphate Impacts Extracellular Vesicle Shedding frombioRxiv : the preprint server for biology · 2025Article
- Modelling Lowe syndrome and Dent-2 disease using zebrafish.Frontiers in cell and developmental biology · 2025Review
- Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons.bioRxiv : the preprint server for biology · 2023Article
- Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.Biomolecules · 2023Article
- The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.Journal of developmental biology · 2022Review
- PIPCommunications biology · 2022Article
- Establishment of transgenic pigs overexpressing humanFrontiers in genetics · 2022Article
- A 3D Renal Proximal Tubule on Chip Model Phenocopies Lowe Syndrome and Dent II Disease Tubulopathy.International journal of molecular sciences · 2021Article
- Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.Human molecular genetics · 2021Article
- Phosphoinositide lipids in primary cilia biology.The Biochemical journal · 2020Review
- Regulation of polycystin expression, maturation and trafficking.Cellular signalling · 2020Review
- Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.Human molecular genetics · 2020Article
- Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.Disease models & mechanisms · 2020Article
- Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations.Journal of neurodevelopmental disorders · 2020Article
- Lipid Interactions of a Ciliary Membrane TRP Channel: Simulation and Structural Studies of Polycystin-2.Structure (London, England : 1993) · 2020Article
- Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.Journal of the American Society of Nephrology : JASN · 2020Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Lowe syndrome is an X-linked disorder characterized by cataracts at birth, mental retardation and progressive renal malfunction that results from loss of function of the OCRL1 (oculocerebrorenal syndrome of Lowe) protein. OCRL1 is a lipid phosphatase that converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. The renal pathogenesis of Lowe syndrome patients has been suggested to result from alterations in membrane trafficking, but this cannot fully explain the disease progression. We found that knockdown of OCRL1 in zebrafish caused developmental defects consistent with disruption of ciliary function, including body axis curvature, pericardial edema, hydrocephaly and impaired renal clearance. In addition, cilia in the proximal tubule of the zebrafish pronephric kidney were longer in ocrl morphant embryos. We also found that knockdown of OCRL1 in polarized renal epithelial cells caused elongation of the primary cilium and disrupted formation of cysts in three-dimensional cultures. Calcium release in response to ATP was blunted in OCRL1 knockdown cells, suggesting changes in signaling that could lead to altered cell function. Our results suggest a new role for OCRL1 in renal epithelial cell function that could contribute to the pathogenesis of Lowe syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.